All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? 1 c.-121T>C r.(=) p.(=) - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 72% of WT promoter activity (luciferase assay) {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} ACGS likely pathogenic g.11200104T>C g.11089428T>C - - LDLR_000002 predicted reduced transcription; 72% of WT promoter activity {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} PubMed: Taylor 2010 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-121T>C r.(=) p.(=) - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 72% of WT promoter activity (luciferase assay) {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} ACGS likely pathogenic g.11200104T>C g.11089428T>C - - LDLR_000002 predicted reduced transcription; 72% of WT promoter activity {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} PubMed: Hooper 2012 - - Germline - - - 0 - Sarah Leigh
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